XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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Phenotypes
Exercise intolerance

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACAD93q21.3100%gene with protein product611103Autosomal recessive inheritance; Cerebral edema; Congestive heart failure; Decreased activity of mitochondrial complex I; Decreased plasma carnitine; Dilated cardiomyopathy; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; EMG: myopathic abnormalities; Encephalopathy; Exercise intolerance; Failure to thrive; Fatigable weakness; Generalized hypotonia; Generalized muscle weakness; Hepatic failure; Hepatic steatosis; Hyperammonemia; Hypertrophic cardiomyopathy; Hypoglycemia; Increased lactate dehydrogenase activity; Increased serum lactate; Lactic acidosis; Microvesicular hepatic steatosis; Muscle weakness; Myalgia; Prolonged prothrombin time; Stroke; ThrombocytopeniaRhabdomyolysis
AGK7q3499.95%gene with protein product610345MULK3-Methylglutaconic aciduria; Autosomal recessive inheritance; Cataract; Congenital cataract; Easy fatigability; Exercise intolerance; Exercise-induced lactic acidemia; Fatigue; Generalized hypotonia; Glaucoma; Growth delay; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Lactic acidosis; Mitochondrial myopathy; Motor delay; Muscle weakness; Myopathy; Myopia; Nystagmus; Respiratory insufficiency; Strabismus; Variable expressivity
APOPT114q32.33100%gene with protein product616003C14orf153Abnormal pyramidal signs; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Delayed speech and language development; Developmental regression; Diffuse hepatic steatosis; Excessive daytime somnolence; Exercise intolerance; Exertional dyspnea; Failure to thrive; Fatigable weakness of swallowing muscles; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Progressive leukoencephalopathy; Progressive peripheral neuropathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Skeletal muscle steatosis
BCS1L2q35100%gene with protein product603647Abnormal pattern of respiration; Abnormality of the abdominal wall; Abnormality of the coagulation cascade; Alopecia; Aminoaciduria; Anhidrosis; Ataxia; Autosomal recessive inheritance; Brittle hair; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholangitis; Cholestasis; Chronic lactic acidosis; Cirrhosis; CNS demyelination; Coarse hair; Death in early adulthood; Decreased liver function; Decreased mitochondrial complex III activity in liver tissue; Decreased transferrin saturation; Depressivity; Dry hair; Dysarthria; Dystonia; EEG abnormality; Elevated hepatic iron concentration; Elevated hepatic transaminases; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes; Hallucinations; Hearing impairment; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hypogonadism; Increased CSF lactate; Increased serum ferritin; Increased serum iron; Increased serum lactate; Increased serum pyruvate; Infantile onset; Intellectual disability; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microvesicular hepatic steatosis; Mitochondrial encephalopathy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Pili torti; Progressive; Ptosis; Ragged-red muscle fibers; Renal Fanconi syndrome; Respiratory failure; Rhabdomyolysis; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Tubulointerstitial nephritis; Variable expressivity
CAVIN117q21.31100%gene with protein productformer name = PTRF603198PTRFAbnormal levels of creatine kinase in blood; Acanthosis nigricans; Atherosclerosis; Atrial fibrillation; Autosomal recessive inheritance; Bradycardia; Constipation; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced myalgia; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle hypertrophy; Generalized muscle weakness; Hepatic steatosis; Hepatomegaly; Hyperinsulinemia; Hyperlordosis; Hypertriglyceridemia; IgA deficiency; Ileus; Infantile onset; Insulin resistance; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Muscle mounding; Muscle stiffness; Muscular dystrophy; Myalgia; Myopathy; Osteopenia; Osteoporosis; Palpitations; Progressive proximal muscle weakness; Prolonged QT interval; Prolonged QTc interval; Prominent umbilicus; Proximal muscle weakness; Pyloric stenosis; Recurrent infections; Scoliosis; Secondary amenorrhea; Skeletal muscle hypertrophy; Spinal rigidity; Splenomegaly; Tachycardia; Thin skin
CHCHD1022q11.2398.57%gene with protein product615903C22orf16Amyotrophic lateral sclerosis; Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Babinski sign; Bulbar palsy; Depressivity; Difficulty walking; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Exercise intolerance; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal dementia; Generalized muscle weakness; Hammertoe; Hyporeflexia; Increased serum lactate; Muscle cramps; Neck flexor weakness; Neurodegeneration; Pain; Paralysis; Pes cavus; Pes planus; Progressive; Proximal muscle weakness in lower limbs; Respiratory failure; Short stature; Skeletal muscle atrophy; Slow progression; Spasticity; Spinal muscular atrophy; Xerostomia
COA52q11.2100%gene with protein product613920C2orf64Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Congenital onset; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COA71p32.3100%gene with protein product615623C1orf163, SELRC1Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COL13A110q22.199.62%gene with protein product120350Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Exercise intolerance; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; High palate; Low-set ears; Micrognathia; Pectus carinatum; Poor head control; Ptosis; Recurrent lower respiratory tract infections; Respiratory insufficiency; Retrognathia
COQ8A1q42.13100%gene with protein productFormer name = ADCK3606980CABC1, ADCK3Ataxia; Autosomal recessive inheritance; Brisk reflexes; Central hypotonia; Cerebellar atrophy; Developmental regression; Exercise intolerance; Focal T2 hypointense basal ganglia lesion; Generalized hypotonia; Hyperreflexia; Increased intramyocellular lipid droplets; Intellectual disability, moderate; Lactic acidosis; Pes cavus; Progressive cerebellar ataxia; Proximal muscle weakness; Seizures; Talipes cavus equinovarus; Variable expressivity
COQ8A1q42.13100%gene with protein productFormer name = ADCK3606980CABC1, ADCK3Ataxia; Autosomal recessive inheritance; Brisk reflexes; Central hypotonia; Cerebellar atrophy; Developmental regression; Exercise intolerance; Focal T2 hypointense basal ganglia lesion; Generalized hypotonia; Hyperreflexia; Increased intramyocellular lipid droplets; Intellectual disability, moderate; Lactic acidosis; Pes cavus; Progressive cerebellar ataxia; Proximal muscle weakness; Seizures; Talipes cavus equinovarus; Variable expressivity
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1412q13.12100%gene with protein product614478C12orf62Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX201q44100%gene with protein product614698FAM36AAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX6B119q13.12100%gene with protein product124089COX6BAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
DMDXp21.2-p21.199.94%gene with protein product300377MRX85Abnormal urinary color; Adult onset; Arrhythmia; Calf muscle hypertrophy; Calf muscle pseudohypertrophy; Cardiomyopathy; Childhood onset; Cognitive impairment; Congestive heart failure; Delayed speech and language development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Falls; Fatigue; Flexion contracture; Generalized hypotonia; Global developmental delay; Gowers sign; Hyperlordosis; Hyporeflexia; Hypoventilation; Intellectual disability; Intellectual disability, mild; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Myalgia; Myoglobinuria; Progressive muscle weakness; Proximal muscle weakness; Respiratory failure; Respiratory insufficiency; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Waddling gait; X-linked inheritance; X-linked recessive inheritanceObesity; Rhabdomyolysis
DNA210q21.3100%gene with protein product601810DNA2LAutosomal dominant inheritance; Autosomal recessive inheritance; Convex nasal ridge; Ectopic kidney; Elevated serum creatine phosphokinase; Exercise intolerance; Exertional dyspnea; Facial palsy; Gait disturbance; Generalized amyotrophy; Global developmental delay; Gowers sign; Intellectual disability; Kyphoscoliosis; Limb-girdle muscle weakness; Microcephaly; Micrognathia; Muscle cramps; Myalgia; Progressive external ophthalmoplegia; Ptosis; Short stature; Slender build; Slow progression; Spinal cord compressionRhabdomyolysis
ENO317p13.2100%gene with protein product131370Adult onset; Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Increased muscle glycogen content; MyalgiaRhabdomyolysis
FASTKD22q33.399.99%gene with protein product612322KIAA0971Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
FLAD11q21.3100%gene with protein product610595Autosomal recessive inheritance; Dysphagia; Exercise intolerance; Fatty replacement of skeletal muscle; Feeding difficulties; Generalized hypotonia; Myopathy; Organic aciduria; Phenotypic variability; Proximal muscle weakness; Respiratory insufficiencyRhabdomyolysis
FOXRED111q24.2100%gene with protein product613622Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
GMPPB3p21.31100%gene with protein product615320Abnormality of the voice; Absent speech; Ataxia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Cleft palate; Cognitive impairment; Congenital muscular dystrophy; Congenital onset; Decreased fetal movement; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Exercise intolerance; Feeding difficulties; Gait disturbance; Generalized hypotonia; Generalized limb muscle atrophy; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of the pons; Intellectual disability; Intellectual disability, severe; Microcephaly; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Myopathy; Myopia; Neurological speech impairment; Oligohydramnios; Optic atrophy; Poor head control; Proximal muscle weakness; Seizures; Sensorineural hearing impairment; Strabismus; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
GYS119q13.33100%gene with protein product138570GYSAutosomal recessive inheritance; Cardiomyopathy; Decreased muscle glycogen content; Exercise intolerance; Generalized tonic-clonic seizures; Left ventricular hypertrophyRhabdomyolysis
ISCU12q23.3100%gene with protein productThe common intronic variant is not detectable by XomeDxSlice.611911NIFUNAbnormal iron deposition in mitochondria; Autosomal recessive inheritance; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex II; Decreased activity of mitochondrial complex III; Dyspnea; Elevated serum creatine phosphokinase; Exercise intolerance; Increased intramyocellular lipid droplets; Increased serum lactate; Juvenile onset; Lactic acidosis; Mitochondrial myopathy; Muscle cramps; Muscle weakness; Myoglobinuria; Myopathy; Palpitations; Sideroblastic anemia; Subsarcolemmal accumulations of abnormally shaped mitochondriaRhabdomyolysis
KBTBD1315q22.31100%gene with protein product613727Autosomal dominant inheritance; Difficulty climbing stairs; Difficulty running; Exercise intolerance; Gait disturbance; Limb muscle weakness; Muscle stiffness; Myopathy; Neck flexor weakness; Nemaline bodies; Slow progressionRhabdomyolysis
LAMP2Xq2499.42%gene with protein product309060Arrhythmia; Cardiomegaly; Cardiorespiratory arrest; Cognitive impairment; Dilated cardiomyopathy; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Exercise intolerance; Exercise-induced muscle cramps; Gait disturbance; Generalized amyotrophy; Global developmental delay; Hypertrophic cardiomyopathy; Hypokinesia; Intellectual disability; Muscle flaccidity; Myocardial fibrosis; Myocardial necrosis; Pes cavus; Phenotypic variability; Proximal muscle weakness; Visual impairment; Wolff-Parkinson-White syndrome; X-linked dominant inheritanceRhabdomyolysis
LDHA11p15.1100%gene with protein product150000Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Increased serum lactate; Increased serum pyruvate; Juvenile onset; Muscle cramps; Muscle stiffness; Myalgia; Myoglobinuria; Renal insufficiency; Rhabdomyolysis; RigidityRhabdomyolysis
MGME120p11.23100%gene with protein product615076C20orf72Autosomal recessive inheritance; Dysphonia; Dyspnea; Easy fatigability; Elevated serum creatine phosphokinase; Exercise intolerance; Facial palsy; Generalized amyotrophy; Hypergonadotropic hypogonadism; Hyporeflexia; Kyphosis; Nasal speech; Progressive; Progressive external ophthalmoplegia; Proximal amyotrophy; Ptosis; Recurrent infections; Respiratory insufficiency; Spinal deformities; Spinal rigidity
NDUFA1Xq24100%gene with protein product300078Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFA1119p13.3100%gene with protein product612638Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF115q15.1100%gene with protein product606934Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF25q12.199.69%gene with protein product609653NDUFA12LAbnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF33p21.31100%gene with protein product612911C3orf60Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF46q16.1100%gene with protein product611776C6orf66Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF520p12.199.97%gene with protein product612360C20orf7Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFB32q33.1100%gene with protein product603839Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFB98q24.13100%gene with protein product601445Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS12q33.399.99%gene with protein product157655Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS21q23.3100%gene with protein product602985Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Blurred vision; Central scotoma; Centrocecal scotoma; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Mitochondrial respiratory chain defects; Muscle weakness; Nystagmus; Optic atrophy; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Retinal telangiectasia; Retinal vascular tortuosity; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Slow decrease in visual acuity; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS311p11.2100%gene with protein product603846Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS45q11.2100%gene with protein product602694Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS65p15.33100%gene with protein product603848Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFV111q13.2100%gene with protein product161015Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFV218p11.22100%gene with protein product600532Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NUBPL14q1299.86%gene with protein product613621C14orf127Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
PET10019p13.299.94%gene with protein product614770C19orf79Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
PFKM12q13.11100%gene with protein product610681PFKXAnemia; Autosomal recessive inheritance; Cholelithiasis; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myoglobinuria; Gout; Hemolytic anemia; Hyperuricemia; Increased muscle glycogen content; Increased total bilirubin; Jaundice; Muscle weakness; Myotonia; Reduced erythrocyte 2,3-diphosphoglycerate concentration; Reticulocytosis; Skeletal muscle atrophy; Variable expressivityHemolytic Anemia ; Rhabdomyolysis
PGAM27p13100%gene with protein product612931Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myalgia; Myoglobinuria; Myopathy; Renal insufficiency; RhabdomyolysisRhabdomyolysis
PGK1Xq21.199.85%gene with protein product311800Ataxia; Delayed speech and language development; Emotional lability; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myoglobinuria; Intellectual disability; Migraine; Phenotypic variability; Reticulocytosis; Rhabdomyolysis; Seizures; X-linked recessive inheritanceHemolytic Anemia ; Rhabdomyolysis
PHKA1Xq13.199.86%gene with protein product311870PHKAElevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced muscle stiffness; Exercise-induced myalgia; Exercise-induced myoglobinuria; Muscle weakness; Skeletal muscle atrophy; X-linked recessive inheritanceRhabdomyolysis
PNPLA211p15.5100%gene with protein product609059Adult onset; Autosomal recessive inheritance; Difficulty running; Difficulty walking; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Fasciculations; Generalized hypotonia; Gowers sign; Hepatic steatosis; Hepatomegaly; Increased muscle lipid content; Myalgia; Myopathy; Proximal muscle weakness; Slow progression; Variable expressivityPalmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG217q23.398.4%gene with protein product604983Adult onset; Arrhythmia; Autosomal dominant inheritance; Cytochrome C oxidase-negative muscle fibers; Elevated serum creatine phosphokinase; Exercise intolerance; Facial palsy; Glucose intolerance; Increased serum lactate; Limb muscle weakness; Multiple mitochondrial DNA deletions; Myalgia; Progressive; Progressive external ophthalmoplegia; Progressive muscle weakness; Ptosis; Variable expressivity
PUS112q24.3399.99%gene with protein product608109Anemia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Delayed puberty; Distichiasis; EMG abnormality; Erythroid hyperplasia; Exercise intolerance; Failure to thrive; Generalized limb muscle atrophy; Glaucoma; High palate; Hypochromic anemia; Increased serum ferritin; Increased serum lactate; Intellectual disability; Kyphosis; Lactic acidosis; Long philtrum; Microcephaly; Microcytic anemia; Micrognathia; Mitochondrial myopathy; Muscular hypotonia; Myopathy; Pallor; Progressive muscle weakness; Scoliosis; Short nose; Sideroblastic anemiaAplastic Anemia ; Bone Marrow Failure Syndromes
RNASEH12p25.3100%gene with protein product604123Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Dysphagia; Exercise intolerance; Increased serum lactate; Postural instability; Progressive; Progressive external ophthalmoplegia; Ptosis; Skeletal muscle atrophy; Unsteady gait
RRM2B8q22.399.95%gene with protein product604712Abdominal distention; Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Aminoaciduria; Anterior hypopituitarism; Ataxia; Atrophic muscularis propria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Depressivity; Diarrhea; Distal muscle weakness; Dysarthria; Dysphagia; Easy fatigability; Elevated hepatic transaminases; EMG abnormality; Exercise intolerance; External ophthalmoplegia; Failure to thrive; Feeding difficulties; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hearing impairment; Hyperalaninemia; Increased CSF protein; Increased muscle fatiguability; Intellectual disability; Lactic acidosis; Leukoencephalopathy; Multiple mitochondrial DNA deletions; Muscular hypotonia; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Progressive intervertebral space narrowing; Progressive neurologic deterioration; Proximal tubulopathy; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Skeletal muscle atrophy; Small intestinal dysmotility; Third degree atrioventricular block; VomitingRhabdomyolysis
RSPH4A6q22.199.98%gene with protein product612647RSHL3Abnormal central microtubular pair morphology of respiratory motile cilia; Abnormal ciliary motility; Autosomal recessive inheritance; Bronchiectasis; Chronic rhinitis; Ciliary dyskinesia; Exercise intolerance; Recurrent respiratory infections; Recurrent sinusitis; Short statureHeterotaxy
RSPH96p21.1100%gene with protein product612648MRPS18AL1, C6orf206Abnormal central microtubular pair morphology of respiratory motile cilia; Autosomal recessive inheritance; Bronchiectasis; Chronic rhinitis; Chronic sinusitis; Ciliary dyskinesia; Exercise intolerance; Nonmotile sperm; Recurrent respiratory infections; Short statureHeterotaxy
SCO117p13.199.99%gene with protein product603644SCOD1Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
SDHA5p15.33100%gene with protein product600857SDH2Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Adrenal pheochromocytoma; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebral hemorrhage; Chest pain; CNS demyelination; Cognitive impairment; Constipation; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; Dystonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Emotional lability; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Exercise intolerance; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flexion contracture; Flushing; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hypotonia; Gliosis; Global developmental delay; Glomerulosclerosis; Hepatocellular necrosis; Heterogeneous; Hypercalcemia; Hyperreflexia; Hypertensive retinopathy; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal obstruction; Lactic acidosis; Left ventricular noncompaction; Leukoencephalopathy; Mitochondrial inheritance; Muscle weakness; Myoclonus; Nausea; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the stomach; Nystagmus; Ophthalmoplegia; Optic atrophy; Palpitations; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pigmentary retinopathy; Positive regitine blocking test; Progressive; Progressive leukoencephalopathy; Proteinuria; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Respiratory failure; Sarcoma; Seizures; Sensorineural hearing impairment; Short stature; Sinus tachycardia; Spasticity; Strabismus; Stress/infection-induced lactic acidosis; Visual impairment; Weight loss
SDHAF119q13.12100%gene with protein product612848Abnormal mitochondria in muscle tissue; Ataxia; Autosomal recessive inheritance; Babinski sign; Cognitive impairment; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dystonia; Exercise intolerance; Flexion contracture; Hyperreflexia; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Left ventricular noncompaction; Leukoencephalopathy; Muscle weakness; Myoclonus; Neonatal hypotonia; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive leukoencephalopathy; Ptosis; Ragged-red muscle fibers; Seizures; Short stature; Spasticity; Stress/infection-induced lactic acidosis; Visual impairment
SDHD11q23.199.87%gene with protein product602690PGL, PGL1Abdominal pain; Abnormal mitochondria in muscle tissue; Abnormality of mitochondrial metabolism; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conductive hearing impairment; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Cranial nerve paralysis; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysphagia; Dysphonia; Dystonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Erythematous plaque; Exercise intolerance; Extraadrenal pheochromocytoma; Fatigue; Flexion contracture; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Glomus tympanicum paraganglioma; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperreflexia; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal carcinoid; Intestinal obstruction; Left ventricular noncompaction; Leukoencephalopathy; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Muscle weakness; Myoclonus; Nausea; Neonatal hypotonia; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the thyroid gland; Night sweats; Nystagmus; Ophthalmoplegia; Optic atrophy; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pheochromocytoma; Pigmentary retinopathy; Positive regitine blocking test; Progressive leukoencephalopathy; Proteinuria; Protracted diarrhea; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Seizures; Short stature; Sinus tachycardia; Small intestine carcinoid; Spasticity; Stress/infection-induced lactic acidosis; Subcutaneous nodule; Tachycardia; Tinnitus; Uterine leiomyoma; Vagal paraganglioma; Visual impairment; Vocal cord paralysis; Weight loss
SLC18A310q11.23100%gene with protein product600336Apnea; Autosomal recessive inheritance; Difficulty walking; Exercise intolerance; Facial palsy; Fatigue; Feeding difficulties; Generalized hypotonia; Knee flexion contracture; Nystagmus; Ophthalmoplegia; Ptosis; Respiratory insufficiency
SLC25A328q22.3100%gene with protein product610815Autosomal recessive inheritance; Exercise intolerance; Ragged-red muscle fibers
SLC25A44q35.199.97%gene with protein product103220PEO3, PEO2, ANT1Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Congenital onset; Cytochrome C oxidase-negative muscle fibers; EMG: myopathic abnormalities; Exercise intolerance; Facial palsy; Generalized hypotonia; Generalized muscle weakness; Heterogeneous; Hypertrophic cardiomyopathy; Hyporeflexia; Lactic acidosis; Multiple mitochondrial DNA deletions; Myalgia; Myopathy; Myopia; Nystagmus; Progressive; Progressive external ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Respiratory insufficiency due to muscle weakness; Slow progression; Strabismus; Subsarcolemmal accumulations of abnormally shaped mitochondria
SLC25A44q35.199.97%gene with protein product103220PEO3, PEO2, ANT1Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Congenital onset; Cytochrome C oxidase-negative muscle fibers; EMG: myopathic abnormalities; Exercise intolerance; Facial palsy; Generalized hypotonia; Generalized muscle weakness; Heterogeneous; Hypertrophic cardiomyopathy; Hyporeflexia; Lactic acidosis; Multiple mitochondrial DNA deletions; Myalgia; Myopathy; Myopia; Nystagmus; Progressive; Progressive external ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Respiratory insufficiency due to muscle weakness; Slow progression; Strabismus; Subsarcolemmal accumulations of abnormally shaped mitochondria
TACO117q23.3100%gene with protein product612958CCDC44Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
TAZXq28100%gene with protein product300394CMD3A, EFE2, EFE3-Methylglutaconic aciduria; Abnormal mitochondrial morphology; Abnormality of neutrophils; Arrhythmia; Congestive heart failure; Deeply set eye; Dilated cardiomyopathy; Endocardial fibroelastosis; Exercise intolerance; Failure to thrive; Fatigue; Full cheeks; Gait disturbance; Granulocytopenia; Growth delay; Hypertrophic cardiomyopathy; Intermittent lactic acidemia; Macrotia; Mandibular prognathia; Motor delay; Myopathic facies; Recurrent infections in infancy and early childhood; Round face; Skeletal myopathy; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes
TIMMDC13q13.33100%gene with protein product615534C3orf1Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
TMEM126B11q14.1100%gene with protein product615533Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
TRMT514q23.1100%gene with protein product611023KIAA1393Abnormal activity of mitochondrial respiratory chain; Autosomal recessive inheritance; Babinski sign; Blue sclerae; Brain atrophy; Cirrhosis; Delayed myelination; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hyporeflexia; Increased serum lactate; Malabsorption; Muscular hypotonia; Narrow mouth; Phenotypic variability; Poor speech; Spasticity; Triangular face
TWNK10q24.31100%gene with protein productFormer name = C10orf2606075IOSCA, C10orf2Abnormality of movement; Abnormality of the autonomic nervous system; Adult onset; Areflexia; Ataxia; Athetosis; Atrophy/Degeneration affecting the brainstem; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Clumsiness; Cognitive impairment; Cytochrome C oxidase-negative muscle fibers; Dementia; Depressivity; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; EMG: myopathic abnormalities; Epilepsia partialis continua; Epileptic encephalopathy; Excessive daytime somnolence; Exercise intolerance; Fatigue; Gait disturbance; Gastroparesis; Generalized hypotonia; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hypergonadotropic hypogonadism; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Intestinal pseudo-obstruction; Limb muscle weakness; Loss of ability to walk; Migraine; Mildly elevated creatine phosphokinase; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscle weakness; Myalgia; Myoclonus; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Poor eye contact; Positive Romberg sign; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Proximal muscle weakness; Psychosis; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorineural hearing impairment; Sensory ataxia; Sensory ataxic neuropathy; Sensory axonal neuropathy; Specific learning disability; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vestibular dysfunction
YARS212p11.21100%gene with protein product610957Anemia; Autosomal recessive inheritance; Delayed puberty; Distichiasis; Dysphagia; EMG abnormality; Exercise intolerance; Failure to thrive; Generalized amyotrophy; Generalized limb muscle atrophy; Glaucoma; Growth delay; High palate; Increased serum lactate; Intellectual disability; Kyphosis; Lactic acidosis; Long philtrum; Microcephaly; Micrognathia; Mitochondrial myopathy; Muscular hypotonia; Myopathy; Nystagmus; Phenotypic variability; Progressive; Progressive muscle weakness; Ptosis; Respiratory insufficiency due to muscle weakness; Scoliosis; Short nose; Sideroblastic anemia; StrabismusAplastic Anemia ; Bone Marrow Failure Syndromes


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome